G74D (p.Gly74Asp) variant of GBA1 (P04062)
G74D (p.Gly74Asp) in GBA1 (P04062) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
G74D (p.Gly74Asp) variant details
- p.Gly74Asp
- TOPMed rs371592589
- gnomAD rs371592589
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.81
- CADD 23.40
- PolyPhen-2 0.66
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available